rs119484086
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs119484086(A;A) |
Make rs119484086(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 12992957 |
Gene | ELAC2 |
is a | snp |
is | mentioned by |
dbSNP | rs119484086 |
dbSNP (classic) | rs119484086 |
ClinGen | rs119484086 |
ebi | rs119484086 |
HLI | rs119484086 |
Exac | rs119484086 |
Gnomad | rs119484086 |
Varsome | rs119484086 |
LitVar | rs119484086 |
Map | rs119484086 |
PheGenI | rs119484086 |
Biobank | rs119484086 |
1000 genomes | rs119484086 |
hgdp | rs119484086 |
ensembl | rs119484086 |
geneview | rs119484086 |
scholar | rs119484086 |
rs119484086 | |
pharmgkb | rs119484086 |
gwascentral | rs119484086 |
openSNP | rs119484086 |
23andMe | rs119484086 |
SNPshot | rs119484086 |
SNPdbe | rs119484086 |
MSV3d | rs119484086 |
GWAS Ctlg | rs119484086 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs119484086(A;A) |
Alt | rs119484086(A;A) |
Reference | Rs119484086(G;G) |
Significance | Pathogenic |
Disease | Prostate cancer Combined oxidative phosphorylation deficiency 17 |
Variation | info |
Gene | ELAC2 |
CLNDBN | Prostate cancer, hereditary, 2 Combined oxidative phosphorylation deficiency 17 |
Reversed | 1 |
HGVS | NC_000017.10:g.12896274C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005361.3, RCV000470586.1, |